Submissions for variant NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=)

gnomAD frequency: 0.00001  dbSNP: rs780761880

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176897	SCV000228663	uncertain significance	not provided	2014-12-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000176897	SCV000760362	likely benign	not provided	2023-11-18	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001842790	SCV001357936	likely benign	Cardiac arrhythmia	2019-07-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345613	SCV002652922	likely benign	Cardiovascular phenotype	2019-05-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health	RCV001842790	SCV004818618	likely benign	Cardiac arrhythmia	2023-11-02	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001698992	SCV001925018	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000176897	SCV001970573	likely benign	not provided		no assertion criteria provided	clinical testing